1. Autosomal recessive renal glucosuria attributable to a mutation in the sodium glucose cotransporter (SGLT2)
- Author
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K.F.H. Assink, L.P.W.J. van den Heuvel, L.A.H. Monnens, and Michèl A.A.P. Willemsen
- Subjects
Glycosuria ,medicine.medical_specialty ,Monosaccharide Transport Proteins ,endocrine system diseases ,Nonsense mutation ,Genes, Recessive ,Disturbances of cerebral development in the young child ,Inborn errors of metabolism ,Glycosuria, Renal ,Biology ,medicine.disease_cause ,Disturbances in biochemical and functional development of the kidney during childhood ,Pathogenesis ,Exon ,Sodium-Glucose Transporter 2 ,Internal medicine ,Genetics ,medicine ,Humans ,Erfelijke stofwisselingsziekten ,Gene ,Genetics (clinical) ,DNA Primers ,Mutation ,Base Sequence ,nutritional and metabolic diseases ,Stoornissen in de biochemische en functionele ontwikkeling van de nier op kinderleeftijd ,medicine.disease ,Endocrinology ,Child, Preschool ,Cerebrale ontwikkelingsstoornissen bij het jonge kind ,medicine.symptom ,Cotransporter ,Kidney disease - Abstract
Item does not contain fulltext Patients with primary renal glucosuria have normal blood glucose levels, normal oral glucose tolerance test results, and isolated persistant glucosuria. Congenital renal glucosuria is postulated to be attributable to defects in the SGLT2 gene. The Na(+)/glucose cotransporter gene SGLT2 (= SLC5A2) was analyzed in a Turkish patient with congenital isolated renal glucosuria. Genomic DNA was used as a template for amplification by the polymerase chain reaction of each of the 14 exons of the SGLT2 gene. The amplification products were sequenced. DNA sequence analysis revealed a homozygous nonsense mutation in exon 11 of the SGLT2 gene leading to the formation of a truncated cotransporter. Both parents and a younger brother, all three without renal glucosuria, are heterozygous for the nonsense mutation. Our data provide the first direct evidence of an etiologic role for the sodium/glucose cotransporter type 2 in the pathogenesis of renal glucosuria.
- Published
- 2002